UniProtKB/SwissProt variant VAR

Variant information

Variant position:

245

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Glycine (G) to Serine (S) at position 245 (G245S, p.Gly245Ser).

Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:

Change from glycine (G) to small size and polar (S)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page

Variant description:

In LFS; germline mutation and in sporadic cancers; somatic mutation.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs28934575 [ dbSNP | Ensembl ]

Sequence information

Variant position:

245

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

393

The length of the canonical sequence.

Location on the sequence:

VGSDCTTIHYNYMCNSSCMG G MNRRPILTIITLEDSSGNLL

The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         VGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLL

                              VGSDYTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNVL

Rhesus macaque                VGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLL

Mouse                         AGSEYTTIHYKYMCNSSCMGGMNRRPILTIITLEDSSGNLL

Rat                           VGSDYTTIHYKYMCNSSCMGGMNRRPILTIITLEDSSGNLL

Pig                           VGSDCTTIHYNFMCNSSCMGGMNRRPILTIITLEDASGNLL

Bovine                        IDSECTTIHYNFMCNSSCMGGMNRRPILTIITLEDSCGNLL

Rabbit                        VGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLL

Sheep                         IESECTTIHYNFMCNSSCMGGMNRRPILTIITLEDSRGNLL

Cat                           VGSDCTTIHYNFMCNSSCMGGMNRRPIITIITLEDSNGKLL

Chicken                       VGSDCTTVLYNFMCNSSCMGGMNRRPILTILTLEGPGGQLL

Xenopus laevis                VGTECTTVLYNYMCNSSCMGGMNRRPILTIITLETPQGLLL

Zebrafish                     LGAEWTTVLLNYMCNSSCMGGMNRRPILTIITLETQEGQLL

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 393	Cellular tumor antigen p53
DNA binding	102 – 292
Region	1 – 320	Interaction with CCAR2
Region	100 – 370	Interaction with HIPK1
Region	100 – 300	Required for interaction with ZNF385A
Region	116 – 292	Interaction with AXIN1
Region	241 – 248	Interaction with the 53BP2 SH3 domain
Metal binding	238 – 238	Zinc
Metal binding	242 – 242	Zinc
Mutagenesis	248 – 248	R -> S. Does not induce SNAI1 degradation.
Turn	243 – 248

Literature citations

Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.
Audrezet M.-P.; Robaszkiewicz M.; Mercier B.; Nousbaum J.-B.; Hardy E.; Bail J.-P.; Volant A.; Lozac'H P.; Gouerou H.; Ferec C.;
Hum. Mutat. 7:109-113(1996)
Cited for: VARIANTS SPORADIC CANCERS PHE-176; SER-245; TRP-248; TRP-282 AND GLN-286;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04637: Variant p.Gly245Ser